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Mutation analysis of the CTNS gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutations
Nephropathic cystinosis is an inherited lysosomal transport disorder caused by mutations in the CTNS gene that encodes for a lysosomal membrane transporter, cystinosin. Dysfunction in this protein leads to cystine accumulation in the cells of different organs. The accumulation of cystine in the kidn...
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| Publié dans: | Hum Genome Var |
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| Auteurs principaux: | , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Nature Publishing Group
2017
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5628181/ https://ncbi.nlm.nih.gov/pubmed/28983406 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.38 |
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